Intermediate
Technical
IVT
Tay-Sachs disease
Pronunciation: TAY-saks
A lysosomal storage disorder caused by hexosaminidase A deficiency, screened in some populations through enzyme activity testing.
Full Definition
Tay-Sachs disease is an autosomal recessive disorder caused by deficiency of beta-hexosaminidase A enzyme, leading to GM2 ganglioside accumulation in neurons. While not universally screened, targeted screening occurs in high-risk populations, particularly those of Ashkenazi Jewish, French-Canadian, or Cajun ancestry. The condition causes progressive neurodegeneration with onset typically in infancy. Screening uses fluorometric enzyme assays on dried blood spots.
Usage
Usage note: Capitalize both components of the eponymous disease name. Note population-specific screening recommendations.
In Context
- "Hexosaminidase A activity was deficient, consistent with Tay-Sachs disease." — laboratory report
- "Tay-Sachs screening is recommended for high-risk ethnic populations." — clinical guideline
Also known as
GM2 gangliosidosis type 1
hexosaminidase A deficiency
Don't confuse with
Sandhoff disease
Niemann-Pick disease